A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7947



Internal ID15499173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144915703..145001208hg38UCSC Ensembl
Outerchr1:144007893..144094293hg19UCSC Ensembl
Outerchr1:142719250..142805650hg18UCSC Ensembl
Outerchr1:141463946..141550346hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3885506
hg1986401
hg1886401
hg1786401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23086
SamplesNA19221
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv7947
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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